Letter: Progress in genetic testing and counseling

Comment

The State Journal-Register

Writer

Posted Mar. 26, 2014 at 1:01 AM

Posted Mar. 26, 2014 at 1:01 AM

New prenatal DNA blood tests as reported lately are a welcome news to the medical community. They may go a long way toward prevention of some of dreadful genetic disorders, notably Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13).

Furthermore, prenatal blood screening tests are claimed to be by far more accurate and non-invasive as compared with the current methods of amniocentesis and diagnostic ultrasounds. Nevertheless, a tough task rests with the genetic counseling which is part and parcel of preventive measures.

By way of analogy, let me cite two most common and fatal neuromuscular disorders which are also genetically determined and hereditary — Duchenne Muscular Dystrophy (sex-linked recessive) and Spinal Muscular Atrophy, type 1 (autosomal recessive). Both are medically fragile and technology dependent early on.

It is heartbreaking and also exasperating to see one family have two brothers afflicted with Duchenne MD and a sister, though asymptomatic, who is most likely a carrier of the gene, and still another family with two siblings with the same condition of SMA type 1.

It can’t be stressed enough that the comprehensive genetic counseling is made available free of charge to suffering families, let alone genetic testing and regular follow-ups, thanks to the Muscular Dystrophy Association. As the old adage goes, “Once burned, twice shy.”

Such an unbearable medical challenge in a family naturally exacts a heavy toll on marital relationships. Thus, the remaining spouse, mostly mom, has to carry the heavy burden of being the sole caretaker of her hopelessly sick children. Expert medical advice is one thing and compliance is another.